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Sideroblastic Anemia

Table of Contents

Sideroblastic Anemia

SA; Sideroachrestic Anemia, Ring sideroblasts

Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). There are different forms of sideroblastic anemia, and all forms are defined by the presence of ring sideroblasts in the bone marrow. Explore causes, symptoms, and treatments.

Ring sideroblasts

Image by Paulo Henrique Orlandi Mourao

Summary

Sideroblast, as seen in sideroblastic anemia

Image by Paulo Henrique Orlandi Mourao/Wikimedia

Sideroblast, as seen in sideroblastic anemia

A ring sideroblast visualized by Prussian blue stain.

Image by Paulo Henrique Orlandi Mourao/Wikimedia

What Is Sideroblastic Anemia?

Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed appearance to the nucleus (ringed sideroblast). The signs and symptoms of this condition may include fatigue, breathing difficulties, weakness, and enlargement of the liver or spleen. There are many potential causes of sideroblastic anemia. Depending on the cause, it can be classified as hereditary (sometimes called congenital), acquired, and idiopathic (cause unknown). The treatment for this condition differs depending on the underlying cause. If acquired, avoidance and or removal of the toxin or drug can lead to recovery. Vitamin B6 (pyridoxine) may be useful in some circumstances.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (3)

Sideroblastic Anemia | R.B.C Disorders made Easy | USMLE Step 1 Hematology

Video by Speedy Medical/YouTube

Sideroblastic Anemia

Video by Medicosis Perfectionalis/YouTube

Sideroblastic anemia

Video by Med Science/YouTube

10:07

Sideroblastic Anemia | R.B.C Disorders made Easy | USMLE Step 1 Hematology

Speedy Medical/YouTube

9:12

Sideroblastic Anemia

Medicosis Perfectionalis/YouTube

13:26

Sideroblastic anemia

Med Science/YouTube

Causes

Mutation

Image by National Human Genome Research Institute (NHGRI)

Mutation

A mutation is a change in the DNA sequence of an organism. Mutations can result from errors in DNA replication during cell division, exposure to mutagens or a viral infection. Germline mutations (that occur in eggs and sperm) can be passed on to offspring, while somatic mutations (that occur in body cells) are not passed on.

Image by National Human Genome Research Institute (NHGRI)

What Causes Sideroblastic Anemia?

Sideroblastic anemia can be caused by hereditary factors, acquired as part of an underlying condition or exposure to drugs or toxins, or the cause may be unknown (idiopathic).

Hereditary causes of sideroblastic anemia include:

Mutations in the ALAS2, ABCB7, SCL19A2, GLRX5, and PSU1 genes
Pearson syndrome
Wolfram or DIDMOAD syndrome
Mitochondrial SLC25A38
Erythropoietic protoporphyria

Acquired causes of sideroblastic anemia include:

Myelodysplastic syndrome
SF3B1 - Splicing factor 3B subunit 1 mutations
Nutritional deficiencies (copper, vitamin B6)
Lead poisoning
Zinc overdose
Alcohol
Drugs (anti-tuberculous agents, antibiotics, progesterone, chelators, busulfan)
Hypothermia

Source: Genetic and Rare Diseases (GARD) Information Center

Symptoms

Fatigue

Image by TheVisualMD

Fatigue

Fatigue

Image by TheVisualMD

What Are the Signs and Symptoms of Sideroblastic Anemia?

The signs and symptoms of sideroblastic anemia may include: fatigue, weakness, the sensation of a pounding or racing heart (palpitations), shortness of breath, headaches, irritability, and chest pain. Physical findings may include pale skin and/or a lemon-yellow colored tinge to the skin and rarely, a brownish discoloration caused by bleeding under the skin. Enlargement of the spleen (splenomegaly) and/or liver (hepatomegaly) may also occur. Rarely, in severe cases, acute leukemia can develop.

Source: Genetic and Rare Diseases (GARD) Information Center

Diagnosis

Complete Blood Count

Image by © 2007 Terese Winslow, U.S. Govt. has certain rights

Complete Blood Count

Image by © 2007 Terese Winslow, U.S. Govt. has certain rights

How Is Sideroblastic Anemia Diagnosed?

The diagnostic workup for sideroblastic anemia may include blood work (complete blood count, peripheral smear, iron studies) and a bone marrow aspiration and/or biopsy. Additional studies that may be useful include imaging of the brain, such as MRI and genetic testing for known or suspected hereditary conditions associated with sideroblastic anemia.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Complete blood count and differential

Illustration of complete blood count and differential (hemogram, full blood exam, leukogram etc.) test results with blood specimen in EDTA tube. N.B. these are my own CBC and diff results so no patient confidentiality issues. Symbol key: CBC, complete blood cell count; WBC, white blood cell count (leukocyte count); RBC, red blood cell count (erythrocyte count); HGB, hemoglobin level; HCT, hematocrit; MCV, mean corpuscular volume; MCH, mean corpuscular hemoglobin (per erythrocyte); MCHC, mean corpuscular hemoglobin concentration; RDW-CV, red blood cell distribution width–coefﬁcient of variation; PLT, platelet count (thrombocyte count); MPV, mean platelet volume; NEUT, neutrophil count; LYMPH, lymphocyte count; MONO, monocyte count; EO, eosinophil count; BASO, basophil count; IG, immature granulocyte count; NRBC, nucleated red blood cell count; EDTA, ethylenediaminetetraacetic acid, a preservative that makes the blood sample last long enough to be processed (it inhibits coagulation by chelating calcium ions).

Image by SpicyMilkBoy/Wikimedia

Complete blood count and differential

SpicyMilkBoy/Wikimedia

Treatment

Crystals of vitamin B6

Image by Doc. RNDr. Josef Reischig, CSc./Wikimedia

Crystals of vitamin B6

Crystals of vitamin B6 in the polarizing microscope (1650x magnification in A3)

Image by Doc. RNDr. Josef Reischig, CSc./Wikimedia

How Might Sideroblastic Anemia Be Treated?

It is recommended that all individuals with sideroblastic anemia avoid zinc-containing supplements and the use of alcohol. Regular follow-up and care with a hematologist is important.

Source: Genetic and Rare Diseases (GARD) Information Center

Prognosis

Prognosis Icon

Image by mcmurryjulie/Pixabay

Prognosis Icon

Image by mcmurryjulie/Pixabay

What Is the Long-Term Outlook for People with Sideroblastic Anemia?

Thrombocytosis appears to be a relatively good prognostic sign. Patients with no need for blood transfusions are very likely to be long-term survivors, whereas those who become transfusion dependent are at risk of death from the complications of secondary hemochromatosis.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

X-Linked Sideroblastic Anemia

X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. Explore symptoms, inheritance, genetics of this condition.

X-Linked Sideroblastic Anemia and Ataxia

X-linked sideroblastic anemia and ataxia is a rare condition characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition occurs only in males. Explore symptoms, inheritance, and genetics of this condition.

Pearson Syndrome

Pearson syndrome is a severe disorder that usually begins in infancy. It causes problems with the development of blood-forming (hematopoietic) cells in the bone marrow that have the potential to develop into different types of blood cells. For this reason, Pearson syndrome is considered a bone marrow failure disorder. Learn more about the disorder.

Anemia

If you have anemia, your blood doesn't carry enough oxygen to the rest of your body, which can make you feel tired, cold, dizzy, and irritable. Learn about the different causes of anemia, how to diagnose it, and the different treatments available.

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Sideroblastic Anemia

Sideroblastic anemia, or sideroachrestic anemia, is a form of anemia in which the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). There are different forms of sideroblastic anemia, and all forms are defined by the presence of ring sideroblasts in the bone marrow. Explore causes, symptoms, and treatments.

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